A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451169



Internal ID229355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186907388..187063054hg38UCSC Ensembl
chr2:187772115..187927781hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38155667
hg19155667
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927510
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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